A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593527



Internal ID16034250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6775437..6790150hg38UCSC Ensembl
Innerchr4:6777164..6791877hg19UCSC Ensembl
Innerchr4:6828065..6842778hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3814714
hg1914714
hg1814714
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv990220
Samples
Known GenesKIAA0232
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593527
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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